Incidental Mutation 'R6716:Nphs2'
| ID |
529392 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nphs2
|
| Ensembl Gene |
ENSMUSG00000026602 |
| Gene Name |
nephrosis 2, podocin |
| Synonyms |
podocin |
| MMRRC Submission |
044834-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.268)
|
| Stock # |
R6716 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
156138297-156155605 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 156148637 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 242
(S242G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027896
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027896]
[ENSMUST00000177824]
[ENSMUST00000178036]
[ENSMUST00000193020]
|
| AlphaFold |
Q91X05 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027896
AA Change: S242G
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000027896
Gene: ENSMUSG00000026602
AA Change: S242G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
43 |
N/A |
INTRINSIC |
|
low complexity region
|
56 |
73 |
N/A |
INTRINSIC |
|
PHB
|
125 |
284 |
7.31e-35 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177824
|
| SMART Domains |
Protein: ENSMUSP00000135900
Gene: ENSMUSG00000026601
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ax_dynein_light
|
131 |
314 |
2.4e-12 |
PFAM |
|
low complexity region
|
405 |
414 |
N/A |
INTRINSIC |
|
low complexity region
|
452 |
464 |
N/A |
INTRINSIC |
|
low complexity region
|
666 |
677 |
N/A |
INTRINSIC |
|
coiled coil region
|
787 |
837 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000178036
|
| SMART Domains |
Protein: ENSMUSP00000137354
Gene: ENSMUSG00000026601
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ax_dynein_light
|
196 |
380 |
3.3e-14 |
PFAM |
|
low complexity region
|
470 |
479 |
N/A |
INTRINSIC |
|
low complexity region
|
517 |
529 |
N/A |
INTRINSIC |
|
low complexity region
|
731 |
742 |
N/A |
INTRINSIC |
|
coiled coil region
|
889 |
939 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193020
AA Change: S167G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000141328
Gene: ENSMUSG00000026602
AA Change: S167G
| Domain | Start | End | E-Value | Type |
|---|
|
PHB
|
50 |
201 |
7.6e-19 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.3%
- 20x: 95.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that plays a role in the regulation of glomerular permeability. Mutations in this gene cause steroid-resistant nephrotic syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for disruptions in this gene display kidney glomerular defects leading to blood and urine chemistry abnormalities. Death usually occurs before 5 weeks of age. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bmp7 |
C |
T |
2: 172,714,682 (GRCm39) |
A376T |
probably damaging |
Het |
| Bnip2 |
T |
C |
9: 69,910,943 (GRCm39) |
I296T |
probably damaging |
Het |
| Chrm2 |
T |
A |
6: 36,501,370 (GRCm39) |
I409N |
probably damaging |
Het |
| Fat3 |
T |
A |
9: 15,830,565 (GRCm39) |
T4310S |
probably benign |
Het |
| Kdm2a |
A |
G |
19: 4,379,130 (GRCm39) |
S122P |
probably damaging |
Het |
| Krt20 |
T |
C |
11: 99,322,754 (GRCm39) |
T294A |
possibly damaging |
Het |
| Macf1 |
C |
T |
4: 123,402,231 (GRCm39) |
S635N |
probably damaging |
Het |
| Prss23 |
A |
C |
7: 89,159,055 (GRCm39) |
I338S |
probably damaging |
Het |
| Rab11fip3 |
G |
T |
17: 26,210,031 (GRCm39) |
S1028R |
probably damaging |
Het |
| Rlig1 |
T |
G |
10: 100,409,478 (GRCm39) |
I312L |
probably benign |
Het |
| Sec23a |
C |
T |
12: 59,015,609 (GRCm39) |
G711D |
probably benign |
Het |
| Slc50a1 |
T |
C |
3: 89,177,214 (GRCm39) |
T68A |
probably damaging |
Het |
| Sphkap |
C |
T |
1: 83,339,949 (GRCm39) |
|
probably null |
Het |
| Tas2r122 |
A |
T |
6: 132,688,860 (GRCm39) |
I11N |
probably damaging |
Het |
| Tpr |
C |
T |
1: 150,290,516 (GRCm39) |
R782C |
probably damaging |
Het |
| Vps13c |
T |
C |
9: 67,858,749 (GRCm39) |
L2733P |
probably benign |
Het |
| Vtn |
C |
T |
11: 78,391,052 (GRCm39) |
R211C |
probably damaging |
Het |
| Xrcc1 |
T |
C |
7: 24,266,571 (GRCm39) |
|
probably null |
Het |
| Zc2hc1b |
T |
C |
10: 13,047,027 (GRCm39) |
D28G |
probably damaging |
Het |
|
| Other mutations in Nphs2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01366:Nphs2
|
APN |
1 |
156,138,605 (GRCm39) |
missense |
probably benign |
0.39 |
|
IGL03206:Nphs2
|
APN |
1 |
156,153,701 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0654:Nphs2
|
UTSW |
1 |
156,146,317 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1265:Nphs2
|
UTSW |
1 |
156,146,317 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1681:Nphs2
|
UTSW |
1 |
156,148,468 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2033:Nphs2
|
UTSW |
1 |
156,151,308 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3767:Nphs2
|
UTSW |
1 |
156,140,608 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4610:Nphs2
|
UTSW |
1 |
156,153,701 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4930:Nphs2
|
UTSW |
1 |
156,148,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5694:Nphs2
|
UTSW |
1 |
156,153,607 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6131:Nphs2
|
UTSW |
1 |
156,153,521 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6147:Nphs2
|
UTSW |
1 |
156,146,296 (GRCm39) |
nonsense |
probably null |
|
|
R6454:Nphs2
|
UTSW |
1 |
156,146,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8037:Nphs2
|
UTSW |
1 |
156,138,400 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R9029:Nphs2
|
UTSW |
1 |
156,140,592 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9192:Nphs2
|
UTSW |
1 |
156,138,386 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9249:Nphs2
|
UTSW |
1 |
156,144,416 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9274:Nphs2
|
UTSW |
1 |
156,144,416 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF048:Nphs2
|
UTSW |
1 |
156,138,541 (GRCm39) |
unclassified |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGCACATAGGAATCCAGACTG -3'
(R):5'- ACAGTGTGCTGAAGGTCACTG -3'
Sequencing Primer
(F):5'- TGCACATAGGAATCCAGACTGAATTC -3'
(R):5'- ACTGCGGAGTGACCTTAGG -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation